The following story is part of an ongoing series celebrating Rare Disease Day 2022. For more information, click here.
Rare diseases do not only impact those living with them; they also greatly affect caregivers. Here, we explore how both patients and caregivers experience Severe Pediatric Alpha-1 Liver Disease.
Alpha-1 antitrypsin deficiency is a rare genetic disorder that can lead to liver disease in children due to excessive amounts of alpha-1 buildup in the liver.1 The condition shows up in infants as jaundice of the skin and eyes at birth, and in young children as jaundice, swollen abdomen, poor weight gain and/or digestive issues.2
While rare diseases like Alpha-1 Liver Disease may seem abstract or insignificant to those who are not affected by them, they are very real to those who are, with significant emotional and psychological consequences in addition to the physical toll. The true impact is best communicated by patients and caregivers managing the disease, who have shared their insights on the challenges they face and the hope they carry.
Children with Alpha-1 Liver Disease have vastly different childhood and life experiences than those who do not live with the condition. On top of the various medical challenges they must manage, they are often both physically and emotionally isolated from other kids
and the world around them. Consider these challenges patients encounter:
Parents of children with Alpha-1 Liver Disease are often forced to make sacrifices as their children face unimaginable medical circumstances. Here are just a few:
This Rare Disease Day, we remain committed to thinking about rare conditions like Alpha-1 Liver Disease from both the patient and caregiver perspective, understanding the challenges faced by both groups and finding ways to help. These perspectives continue to inspire and drive us forward in developing treatment options and providing support and advocacy for patients and caregivers at every step of their disease journeys.
*Patients who suffer from Alpha-1 Liver Disease are often too young to express their disease experience. Messages have been extracted from research and caregiver interviews.
**Caregiver experience has been extracted from interviews.